DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cerebellar vermis hypoplasia ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	51412
Gene Symbol:	ACTL6B

ACTL6B

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

31134736

2019

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

26350204

2015

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

22426309

2012

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

19508969

2009

Entrez Id:	22884
Gene Symbol:	WDR37

WDR37

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR

Entrez Id:	9091
Gene Symbol:	PIGQ

PIGQ

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR

Entrez Id:	1123
Gene Symbol:	CHN1

CHN1

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR

Entrez Id:	27086
Gene Symbol:	FOXP1

FOXP1

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR

Entrez Id:	1654
Gene Symbol:	DDX3X

DDX3X

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Entrez Id:	79644
Gene Symbol:	SRD5A3

SRD5A3

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Entrez Id:	55217
Gene Symbol:	TMLHE

TMLHE

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR

Entrez Id:	7846
Gene Symbol:	TUBA1A

TUBA1A

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR

Entrez Id:	27245
Gene Symbol:	AHDC1

AHDC1

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Entrez Id:	100507404
Gene Symbol:	TMLHE-AS1

TMLHE-AS1

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR

Entrez Id:	53335
Gene Symbol:	BCL11A

BCL11A

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Entrez Id:	27086
Gene Symbol:	FOXP1

FOXP1

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR

Entrez Id:	29072
Gene Symbol:	SETD2

SETD2

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

CausalMutation

CLINVAR

Entrez Id:	1801
Gene Symbol:	DPH1

DPH1

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.100

GeneticVariation

CLINVAR